Development of Duffy transgenic mouse: in vivo expression of human Duffy gene with -33T -> C promoter mutation in non-erythroid tissues

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Development of Duffy transgenic mouse: in vivo expression of human Duffy gene with -33T -> C promoter mutation in non-erythroid tissues. / Chaudhuri, A; Yuen, G; Fang, F; Storry, Jill.

In: British Journal of Haematology, Vol. 127, No. 3, 2004, p. 356-359.

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TY - JOUR

T1 - Development of Duffy transgenic mouse: in vivo expression of human Duffy gene with -33T -> C promoter mutation in non-erythroid tissues

AU - Chaudhuri, A

AU - Yuen, G

AU - Fang, F

AU - Storry, Jill

PY - 2004

Y1 - 2004

N2 - Blood group Duffy gene (FY) promoter in Duffy-negative individuals contains a point mutation in the GATA1 protein-binding motif, which was suggested to be responsible for erythroid suppression of FY. We developed two transgenic mouse lines with FY from both Duffy phenotypes. Transgenic mice with FY from Duffy-positive phenotype expressed Duffy protein both in red blood cells (RBCs) and non-erythroid tissues. Transgenic mice with FY from Duffy-negative phenotype did not express Duffy protein in RBCs, but it was expressed in non-erythroid tissues. This is the first in vivo experimental evidence showing the effect of -33T-->C promoter mutation on FY expression.

AB - Blood group Duffy gene (FY) promoter in Duffy-negative individuals contains a point mutation in the GATA1 protein-binding motif, which was suggested to be responsible for erythroid suppression of FY. We developed two transgenic mouse lines with FY from both Duffy phenotypes. Transgenic mice with FY from Duffy-positive phenotype expressed Duffy protein both in red blood cells (RBCs) and non-erythroid tissues. Transgenic mice with FY from Duffy-negative phenotype did not express Duffy protein in RBCs, but it was expressed in non-erythroid tissues. This is the first in vivo experimental evidence showing the effect of -33T-->C promoter mutation on FY expression.

KW - erythroid-non-erythroid expression

KW - transgenic mice

KW - Duffy gene (FY)

KW - -33T -> C mutation

U2 - 10.1111/j.1365-2141.2004.05208.x

DO - 10.1111/j.1365-2141.2004.05208.x

M3 - Article

VL - 127

SP - 356

EP - 359

JO - British Journal of Haematology

T2 - British Journal of Haematology

JF - British Journal of Haematology

SN - 0007-1048

IS - 3

ER -